L102F (p.Leu102Phe) variant of ABCA4 (P78363)
L102F (p.Leu102Phe) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L102F (p.Leu102Phe) variant details
- p.Leu102Phe
- rs1054538871
- ClinGen CA26895942
- ClinVar RCV001367776
- gnomAD rs1054538871
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.81
- MetaLR 0.89
- MetaSVM 0.95
- CADD 19.80
- PolyPhen-2 0.27
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available